Mutagenetix > Incidental Mutation

Incidental Mutation 'R2076:Zfp180'

229156

Institutional Source

Beutler Lab

Gene Symbol

Zfp180

Ensembl Gene

ENSMUSG00000057101

Gene Name

zinc finger protein 180

Synonyms

HHZ168, 2310040I01Rik, D130011P11

MMRRC Submission

040081-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

R2076 (G1)

Quality Score

104

Status

Validated

Chromosome

Chromosomal Location

24081924-24107713 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24105103 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 316 (K316E)

Ref Sequence

ENSEMBL: ENSMUSP00000064611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068975] [ENSMUST00000203854] [ENSMUST00000206184] [ENSMUST00000207002]

AlphaFold

Q6NZI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000068975
AA Change: K316E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064611
Gene: ENSMUSG00000057101
AA Change: K316E

Domain	Start	End	E-Value	Type
Blast:KRAB	46	103	7e-14	BLAST
ZnF_C2H2	318	340	3.21e-4	SMART
ZnF_C2H2	346	368	3.39e-3	SMART
ZnF_C2H2	374	396	1.72e-4	SMART
ZnF_C2H2	402	424	4.87e-4	SMART
ZnF_C2H2	430	452	1.58e-3	SMART
ZnF_C2H2	458	480	5.99e-4	SMART
ZnF_C2H2	486	508	2.12e-4	SMART
ZnF_C2H2	514	536	1.6e-4	SMART
ZnF_C2H2	542	564	3.95e-4	SMART
ZnF_C2H2	570	592	5.9e-3	SMART
ZnF_C2H2	598	620	1.12e-3	SMART
ZnF_C2H2	626	648	4.11e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203854

SMART Domains

Protein: ENSMUSP00000145165
Gene: ENSMUSG00000057101

Domain	Start	End	E-Value	Type
Blast:KRAB	12	69	4e-14	BLAST
ZnF_C2H2	284	306	3.21e-4	SMART
ZnF_C2H2	312	334	3.39e-3	SMART
ZnF_C2H2	340	362	1.72e-4	SMART
ZnF_C2H2	368	390	4.87e-4	SMART
ZnF_C2H2	396	418	1.58e-3	SMART
ZnF_C2H2	424	446	5.99e-4	SMART
ZnF_C2H2	452	474	2.12e-4	SMART
ZnF_C2H2	480	502	1.6e-4	SMART
ZnF_C2H2	508	530	3.95e-4	SMART
ZnF_C2H2	536	558	5.9e-3	SMART
ZnF_C2H2	564	586	1.12e-3	SMART
ZnF_C2H2	592	614	4.11e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000206184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206482

Predicted Effect

probably benign
Transcript: ENSMUST00000207002

Meta Mutation Damage Score

0.3331

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2002]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,219,257	D1763E	possibly damaging	Het
Abca5	A	T	11: 110,287,652	V1165D	probably benign	Het
Acot11	T	C	4: 106,770,713	H103R	probably damaging	Het
AI481877	A	G	4: 59,082,410	V406A	possibly damaging	Het
Apba1	G	T	19: 23,893,223	E140*	probably null	Het
Bicdl1	A	T	5: 115,655,928	I253N	probably damaging	Het
Ccdc159	T	C	9: 21,929,506		probably null	Het
Ccne2	A	G	4: 11,197,177	R160G	probably damaging	Het
Cct7	A	T	6: 85,468,140	I458F	probably damaging	Het
Cd3g	T	A	9: 44,974,297	D50V	probably damaging	Het
Ces2h	T	C	8: 105,019,028	L461P	probably benign	Het
Csn2	A	G	5: 87,696,174	S19P	probably damaging	Het
Cyp3a11	A	T	5: 145,879,766	V4D	probably benign	Het
Ddx3y	A	G	Y: 1,266,593		probably null	Het
Dlgap1	C	T	17: 70,786,831	Q716*	probably null	Het
Dlx6	A	G	6: 6,867,098	S234G	probably benign	Het
Dnah7a	T	C	1: 53,503,809	T2401A	probably benign	Het
Dnah7b	T	G	1: 46,242,321	Y2847*	probably null	Het
Dpysl2	A	G	14: 66,865,122	S30P	probably damaging	Het
Ezh2	A	T	6: 47,576,633	L50*	probably null	Het
Fam135b	T	A	15: 71,478,243	E349D	probably damaging	Het
Fam69c	G	T	18: 84,736,908	D170Y	probably damaging	Het
Frat2	T	C	19: 41,847,803	T37A	probably benign	Het
Gm5294	A	G	5: 138,821,267	D100G	probably benign	Het
Hivep1	G	A	13: 42,164,393		probably null	Het
Hspb11	T	C	4: 107,279,767	S121P	possibly damaging	Het
Ikbkap	T	C	4: 56,786,620	D441G	probably damaging	Het
Impdh1	G	A	6: 29,205,163	A213V	probably damaging	Het
Irf2	G	T	8: 46,845,927	W252L	probably damaging	Het
Irx4	A	G	13: 73,268,265	D260G	probably damaging	Het
Kalrn	T	A	16: 34,332,143	H338L	probably benign	Het
Kif9	T	A	9: 110,485,032		probably null	Het
Klhl24	T	C	16: 20,117,878	V412A	probably damaging	Het
Lgals8	T	A	13: 12,454,869	K70*	probably null	Het
Mkl2	T	C	16: 13,401,382	S631P	probably benign	Het
Myo1e	T	A	9: 70,383,877	N983K	probably benign	Het
Nipbl	T	C	15: 8,311,207	R2010G	probably benign	Het
Npw	A	T	17: 24,657,439	V166D	possibly damaging	Het
Osbpl5	T	C	7: 143,709,144	Y169C	probably damaging	Het
Pcdh15	T	C	10: 74,342,647	Y579H	probably damaging	Het
Pde8a	A	G	7: 81,308,945	T330A	probably benign	Het
Plxnb2	C	T	15: 89,158,026	V1592M	probably damaging	Het
Ppp2r3a	A	C	9: 101,144,371	M955R	possibly damaging	Het
Ptprk	T	A	10: 28,589,368	I1349K	probably damaging	Het
Rad52	C	T	6: 119,911,079	H9Y	probably benign	Het
Rapgef1	A	G	2: 29,702,508	Q466R	probably benign	Het
Rb1cc1	T	A	1: 6,250,038	I1227N	possibly damaging	Het
Rhbdf1	T	C	11: 32,214,088	M273V	probably benign	Het
Slc30a3	G	T	5: 31,086,821	Y323*	probably null	Het
Slc5a9	T	C	4: 111,885,573	I441V	possibly damaging	Het
Spast	G	C	17: 74,352,031	G131A	probably damaging	Het
Syne1	C	G	10: 5,040,897	W8444S	probably damaging	Het
Tgm4	G	T	9: 123,051,095	A211S	probably benign	Het
Themis2	T	C	4: 132,785,802	D371G	probably damaging	Het
Tmem132e	T	A	11: 82,435,068	I206N	possibly damaging	Het
Uba3	G	T	6: 97,199,280	D88E	probably damaging	Het
Vmn1r230	T	A	17: 20,846,882	M111K	probably damaging	Het
Wdr35	C	T	12: 9,024,281	H971Y	possibly damaging	Het
Yeats2	C	A	16: 20,186,282	H356Q	possibly damaging	Het
Zfp518a	T	C	19: 40,914,327	L900P	probably damaging	Het
Zfp655	A	G	5: 145,244,600	N423D	possibly damaging	Het
Zfp932	A	G	5: 110,009,468	Q344R	probably benign	Het

Other mutations in Zfp180

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Zfp180	APN	7	24085469	missense	probably damaging	0.98
IGL00990:Zfp180	APN	7	24104830	missense	probably benign	0.42
IGL00990:Zfp180	APN	7	24104995	missense	possibly damaging	0.60
IGL00990:Zfp180	APN	7	24104416	missense	possibly damaging	0.83
IGL01061:Zfp180	APN	7	24104745	missense	possibly damaging	0.50
IGL01328:Zfp180	APN	7	24101479	missense	probably benign	0.01
IGL03134:Zfp180	UTSW	7	24104745	missense	possibly damaging	0.50
R0137:Zfp180	UTSW	7	24105733	missense	possibly damaging	0.93
R0390:Zfp180	UTSW	7	24104707	missense	possibly damaging	0.95
R1451:Zfp180	UTSW	7	24105218	missense	probably benign	0.00
R1534:Zfp180	UTSW	7	24101523	missense	probably benign	0.31
R1555:Zfp180	UTSW	7	24101574	intron	probably benign
R1577:Zfp180	UTSW	7	24105908	missense	probably damaging	1.00
R1605:Zfp180	UTSW	7	24104624	missense	probably benign	0.00
R1633:Zfp180	UTSW	7	24104801	missense	probably benign	0.07
R1817:Zfp180	UTSW	7	24105227	missense	probably damaging	1.00
R2012:Zfp180	UTSW	7	24104518	missense	probably benign	0.01
R2151:Zfp180	UTSW	7	24105260	missense	probably damaging	1.00
R2262:Zfp180	UTSW	7	24104624	missense	probably benign	0.32
R3081:Zfp180	UTSW	7	24105503	missense	probably damaging	1.00
R3402:Zfp180	UTSW	7	24105745	missense	probably benign	0.30
R4551:Zfp180	UTSW	7	24104573	missense	possibly damaging	0.87
R4747:Zfp180	UTSW	7	24105821	missense	probably damaging	1.00
R4983:Zfp180	UTSW	7	24106078	missense	probably damaging	0.98
R5610:Zfp180	UTSW	7	24104890	missense	probably benign	0.00
R5764:Zfp180	UTSW	7	24101484	missense	possibly damaging	0.71
R5987:Zfp180	UTSW	7	24105434	missense	probably damaging	1.00
R6207:Zfp180	UTSW	7	24105085	nonsense	probably null
R6247:Zfp180	UTSW	7	24105105	missense	probably damaging	1.00
R6328:Zfp180	UTSW	7	24105556	missense	probably damaging	1.00
R6708:Zfp180	UTSW	7	24106096	missense	probably damaging	0.98
R6814:Zfp180	UTSW	7	24105881	missense	probably damaging	1.00
R6872:Zfp180	UTSW	7	24105881	missense	probably damaging	1.00
R7006:Zfp180	UTSW	7	24105112	nonsense	probably null
R7084:Zfp180	UTSW	7	24105261	missense	probably damaging	1.00
R7101:Zfp180	UTSW	7	24104533	missense	probably benign	0.00
R7213:Zfp180	UTSW	7	24104513	missense	possibly damaging	0.87
R7263:Zfp180	UTSW	7	24105700	nonsense	probably null
R7360:Zfp180	UTSW	7	24105490	missense	probably damaging	1.00
R7487:Zfp180	UTSW	7	24106100	missense	probably damaging	1.00
R7766:Zfp180	UTSW	7	24104659	missense	probably benign	0.37
R7816:Zfp180	UTSW	7	24105145	missense	probably damaging	1.00
R8086:Zfp180	UTSW	7	24106110	missense	probably benign
R8359:Zfp180	UTSW	7	24104912	missense	probably benign
R8747:Zfp180	UTSW	7	24105262	missense	possibly damaging	0.54
R8768:Zfp180	UTSW	7	24105736	missense	probably damaging	1.00
R8967:Zfp180	UTSW	7	24105301	missense	probably damaging	1.00
R9045:Zfp180	UTSW	7	24104890	missense	probably benign	0.01
R9460:Zfp180	UTSW	7	24104974	missense	probably damaging	1.00
R9480:Zfp180	UTSW	7	24105203	missense	probably benign	0.20
V5622:Zfp180	UTSW	7	24082031	start gained	probably benign
X0067:Zfp180	UTSW	7	24105472	missense	probably damaging	1.00
Z1177:Zfp180	UTSW	7	24105871	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCGCCCCGAAATCTAAATGAG -3'
(R):5'- TTTGTAGCTCTGGCGGAAC -3'

Sequencing Primer
(F):5'- GCCCCGAAATCTAAATGAGAAAGTTC -3'
(R):5'- GTGAGTTCTCTGATGCACCACAAG -3'

Posted On

2014-09-17